A16P (p.Ala16Pro) variant of PINK1 (Q9BXM7)
A16P (p.Ala16Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- gnomAD 1-20633594-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.43
- CADD 26.60
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available